G47R (p.Gly47Arg) variant of SLC8A1 (Sodium/calcium exchanger 1)
G47R (p.Gly47Arg) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G47R (p.Gly47Arg) variant details
- p.Gly47Arg
- ExAC rs766064333
- gnomAD rs766064333
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.08
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available